Table 1.
NF1 | Cardio-facio-cutaneous syndrome | Costello syndrome | Noonan syndrome | LEOPARD syndrome | Capillary malformation-arteriovenous malformation | |
---|---|---|---|---|---|---|
Gene | NF1 | BRAF, MEK1, MEK2, KRAS | HRAS | PTPN11, KRAS, SOS1, RAF1, NRAS, SHOC2, CBL* | PTPN11, RAF, BRAF | RASA1 |
Predominant cutaneous features |
|
|
|
|
|
|
Cardiac defects |
|
|
|
|
|
Rare |
Cancer predisposition |
Yes
|
Rare
|
Yes
|
Rare
|
Rare
|
Rare
|
Other |
|
|
|
|
|
|
Martinelli et al recently reported germline mutations in CBL (a tumor-suppressor gene commonly mutated in myeloid leukemias) in patients with a Noonan phenotype who had negative screening for mutations in the other genes linked with Noonan syndrome39.